Core - Fluorescent in situ hybridization

Shaffer, Lisa

Abstract

The FISH Core will provide conventional FISH for BAC mapping, breakpoint mapping, genomic mapping of additional copies of low-copy repeats, and selective fiber FISH for genomic ordering of BAC clones. In addition, the FISH Core will provide patient sample analysis to confirm a specific chromosome rearrangement and the size of the rearrangement.

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
• Type: Research Program Projects (P01)
• Project #: 1P01HD039420-01A1
• Application #: 6477648
• Study Section: Special Emphasis Panel (ZHD1)
• Project Start: 2001-06-11
• Project End: 2006-05-31
• Support Year: 1
• Fiscal Year: 2001

Institution

• Name: Baylor College of Medicine
• DUNS #: 074615394
• City: Houston
• State: TX
• Country: United States
• Zip Code: 77030

Publications

Alkalay, Avishai A; Guo, Tingwei; Montagna, Cristina et al. (2011) Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A 155A:548-54

Yatsenko, Svetlana A; Brundage, Ellen K; Roney, Erin K et al. (2009) Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet 18:1924-36

Yan, J; Zhang, F; Brundage, E et al. (2009) Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet 46:626-34

Bi, Weimin; Sapir, Tamar; Shchelochkov, Oleg A et al. (2009) Increased LIS1 expression affects human and mouse brain development. Nat Genet 41:168-77

Dobyns, William B; Mirzaa, Ghayda; Christian, Susan L et al. (2008) Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A 146A:1637-54

Carvalho, Claudia M B; Lupski, James R (2008) Copy number variation at the breakpoint region of isochromosome 17q. Genome Res 18:1724-32

Borg, Katarzyna; Nowakowska, Beata; Obersztyn, Ewa et al. (2007) Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A 143A:2738-43

Simovich, Marcia J; Yatsenko, Svetlana A; Kang, Sung-Hae L et al. (2007) Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn 27:1112-7

Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane et al. (2007) Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633-49

Babcock, Melanie; Yatsenko, Svetlana; Hopkins, Janet et al. (2007) Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet 16:2560-71